Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BAZ1B

Variant:p.D1203N

Back to variants list

BAZ1B

NM_032408.4:p.D1203N

hg38:chr7:73449663 C>T

Associated Papers

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Kaschta D et al.

Genome Medicine, 2025

40963120 (PubMed )

Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."